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Protein

AarF domain-containing protein kinase 4

Gene

ADCK4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration.1 Publication

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Names & Taxonomyi

Protein namesi
Recommended name:
AarF domain-containing protein kinase 4 (EC:2.7.11.-)
Gene namesi
Name:ADCK4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:19041. ADCK4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei92 – 10817HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 9 (NPHS9)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.

See also OMIM:615573
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781R → W in NPHS9. 1 Publication
VAR_070552
Natural varianti286 – 2861D → G in NPHS9. 1 Publication
VAR_070553
Natural varianti320 – 3201R → W in NPHS9. 1 Publication
VAR_070554
Natural varianti343 – 3431R → W in NPHS9. 1 Publication
VAR_070555
Natural varianti477 – 4771R → Q in NPHS9. 1 Publication
VAR_070556

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615573. phenotype.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA134988974.

Polymorphism and mutation databases

BioMutaiADCK4.
DMDMi74731415.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 544544AarF domain-containing protein kinase 4PRO_0000271797Add
BLAST

Proteomic databases

MaxQBiQ96D53.
PaxDbiQ96D53.
PRIDEiQ96D53.

PTM databases

PhosphoSiteiQ96D53.

Expressioni

Tissue specificityi

Widely expressed, including renal podocytes.1 Publication

Gene expression databases

BgeeiQ96D53.
CleanExiHS_ADCK4.
ExpressionAtlasiQ96D53. baseline and differential.
GenevisibleiQ96D53. HS.

Organism-specific databases

HPAiHPA027229.
HPA027277.
HPA027279.

Interactioni

Subunit structurei

Homodimer; homodimerizes via its transmembrane region (PubMed:25216398). Interacts with COQ6 and COQ7 (PubMed:24270420).2 Publications

Protein-protein interaction databases

BioGridi123009. 5 interactions.
IntActiQ96D53. 1 interaction.
STRINGi9606.ENSP00000315118.

Structurei

3D structure databases

ProteinModelPortaliQ96D53.
SMRiQ96D53. Positions 137-519.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini191 – 423233Protein kinaseAdd
BLAST

Sequence similaritiesi

Contains 1 protein kinase domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0661.
GeneTreeiENSGT00550000074739.
HOGENOMiHOG000201140.
HOVERGENiHBG061318.
InParanoidiQ96D53.
KOiK08869.
OMAiPHWWGPC.
OrthoDBiEOG7X9G6H.
PhylomeDBiQ96D53.
TreeFamiTF300630.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view]
PfamiPF03109. ABC1. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96D53-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP
60 70 80 90 100
GRGLGEEDIR RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV
110 120 130 140 150
GLGLGVLAEM AKKSMPGGRL QSEGGSGLDS SPFLSEANAE RIVQTLCTVR
160 170 180 190 200
GAALKVGQML SIQDNSFISP QLQHIFERVR QSADFMPRWQ MLRVLEEELG
210 220 230 240 250
RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY PGIAQSIQSD
260 270 280 290 300
VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL
310 320 330 340 350
LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL
360 370 380 390 400
LTLCLRELFE FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH
410 420 430 440 450
YIEVVKAAAD GDRDCVLQKS RDLKFLTGFE TKAFSDAHVE AVMILGEPFA
460 470 480 490 500
TQGPYDFGSG ETARRIQDLI PVLLRHRLCP PPEETYALHR KLAGAFLACA
510 520 530 540
HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW VDPS
Length:544
Mass (Da):60,069
Last modified:October 1, 2002 - v2
Checksum:i4645DF579B9DFA4B
GO
Isoform 2 (identifier: Q96D53-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     123-163: Missing.

Note: No experimental confirmation available.
Show »
Length:503
Mass (Da):55,853
Checksum:i547A81982FE22A6A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti164 – 1663DNS → GTA in BAB14004 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781R → C.1 Publication
Corresponds to variant rs11538384 [ dbSNP | Ensembl ].
VAR_041420
Natural varianti174 – 1741H → R.1 Publication
Corresponds to variant rs3865452 [ dbSNP | Ensembl ].
VAR_029995
Natural varianti178 – 1781R → W in NPHS9. 1 Publication
VAR_070552
Natural varianti286 – 2861D → G in NPHS9. 1 Publication
VAR_070553
Natural varianti318 – 3181T → M.1 Publication
Corresponds to variant rs55899516 [ dbSNP | Ensembl ].
VAR_041421
Natural varianti320 – 3201R → W in NPHS9. 1 Publication
VAR_070554
Natural varianti343 – 3431R → W in NPHS9. 1 Publication
VAR_070555
Natural varianti352 – 3521T → R.1 Publication
Corresponds to variant rs36012476 [ dbSNP | Ensembl ].
VAR_041422
Natural varianti462 – 4621T → M.1 Publication
Corresponds to variant rs56083906 [ dbSNP | Ensembl ].
VAR_041423
Natural varianti477 – 4771R → Q in NPHS9. 1 Publication
VAR_070556

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei123 – 16341Missing in isoform 2. 1 PublicationVSP_022357Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC013114 mRNA. Translation: AAH13114.2.
BC027473 mRNA. Translation: AAH27473.1.
AK022291 mRNA. Translation: BAB14004.1.
CCDSiCCDS12562.1. [Q96D53-1]
CCDS46081.1. [Q96D53-2]
RefSeqiNP_001136027.1. NM_001142555.2. [Q96D53-2]
NP_079152.3. NM_024876.3. [Q96D53-1]
XP_005259328.1. XM_005259271.3. [Q96D53-1]
XP_005259329.1. XM_005259272.3. [Q96D53-1]
XP_005259330.1. XM_005259273.3. [Q96D53-1]
XP_006723455.1. XM_006723392.2. [Q96D53-1]
XP_006723456.1. XM_006723393.2. [Q96D53-1]
UniGeneiHs.130712.

Genome annotation databases

EnsembliENST00000243583; ENSP00000243583; ENSG00000123815. [Q96D53-2]
ENST00000324464; ENSP00000315118; ENSG00000123815. [Q96D53-1]
GeneIDi79934.
KEGGihsa:79934.
UCSCiuc002ooq.2. human. [Q96D53-2]
uc002oor.2. human. [Q96D53-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC013114 mRNA. Translation: AAH13114.2.
BC027473 mRNA. Translation: AAH27473.1.
AK022291 mRNA. Translation: BAB14004.1.
CCDSiCCDS12562.1. [Q96D53-1]
CCDS46081.1. [Q96D53-2]
RefSeqiNP_001136027.1. NM_001142555.2. [Q96D53-2]
NP_079152.3. NM_024876.3. [Q96D53-1]
XP_005259328.1. XM_005259271.3. [Q96D53-1]
XP_005259329.1. XM_005259272.3. [Q96D53-1]
XP_005259330.1. XM_005259273.3. [Q96D53-1]
XP_006723455.1. XM_006723392.2. [Q96D53-1]
XP_006723456.1. XM_006723393.2. [Q96D53-1]
UniGeneiHs.130712.

3D structure databases

ProteinModelPortaliQ96D53.
SMRiQ96D53. Positions 137-519.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123009. 5 interactions.
IntActiQ96D53. 1 interaction.
STRINGi9606.ENSP00000315118.

Chemistry

BindingDBiQ96D53.
ChEMBLiCHEMBL5753.
GuidetoPHARMACOLOGYi1928.

PTM databases

PhosphoSiteiQ96D53.

Polymorphism and mutation databases

BioMutaiADCK4.
DMDMi74731415.

Proteomic databases

MaxQBiQ96D53.
PaxDbiQ96D53.
PRIDEiQ96D53.

Protocols and materials databases

DNASUi79934.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243583; ENSP00000243583; ENSG00000123815. [Q96D53-2]
ENST00000324464; ENSP00000315118; ENSG00000123815. [Q96D53-1]
GeneIDi79934.
KEGGihsa:79934.
UCSCiuc002ooq.2. human. [Q96D53-2]
uc002oor.2. human. [Q96D53-1]

Organism-specific databases

CTDi79934.
GeneCardsiGC19M041199.
HGNCiHGNC:19041. ADCK4.
HPAiHPA027229.
HPA027277.
HPA027279.
MIMi615567. gene.
615573. phenotype.
neXtProtiNX_Q96D53.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA134988974.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0661.
GeneTreeiENSGT00550000074739.
HOGENOMiHOG000201140.
HOVERGENiHBG061318.
InParanoidiQ96D53.
KOiK08869.
OMAiPHWWGPC.
OrthoDBiEOG7X9G6H.
PhylomeDBiQ96D53.
TreeFamiTF300630.

Miscellaneous databases

ChiTaRSiADCK4. human.
GenomeRNAii79934.
NextBioi69870.
PROiQ96D53.
SOURCEiSearch...

Gene expression databases

BgeeiQ96D53.
CleanExiHS_ADCK4.
ExpressionAtlasiQ96D53. baseline and differential.
GenevisibleiQ96D53. HS.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view]
PfamiPF03109. ABC1. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Lymph and Placenta.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-166 (ISOFORM 1).
    Tissue: Mammary gland.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3."
    Khadria A.S., Mueller B.K., Stefely J.A., Tan C.H., Pagliarini D.J., Senes A.
    J. Am. Chem. Soc. 136:14068-14077(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  5. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-78; ARG-174; MET-318; ARG-352 AND MET-462.
  6. Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiADCK4_HUMAN
AccessioniPrimary (citable) accession number: Q96D53
Secondary accession number(s): Q8TAJ1, Q9HA52
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 1, 2002
Last modified: June 24, 2015
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.